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Krabbe Disease Information Page

Krabbe Disease Information Page

What research is being done?

Hematopoietic stem cell transplantation -- using stem cells from umbilical cord blood or bone marrow -- has been shown to benefit some individuals when given early in the course of the disease. Scientists plan to test hematopoietic stem cell transplantation plus gene therapy to see if it dramatically increases life expectancy in a mouse model of the disease. Also in a mouse model, scientists funded by the National Institute of Neurological Disorders and Stroke are testing a combined treatment approach that uses a harmless virus to increase protein production, along with blood stem cell transplantation and small-molecule-based drugs, to reduce neuroinflammation, cell death, and nerve cell degeneration seen in Krabbe disease.

Information from the National Library of Medicine’s MedlinePlusKrabbe Disease

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What research is being done?

Hematopoietic stem cell transplantation -- using stem cells from umbilical cord blood or bone marrow -- has been shown to benefit some individuals when given early in the course of the disease. Scientists plan to test hematopoietic stem cell transplantation plus gene therapy to see if it dramatically increases life expectancy in a mouse model of the disease. Also in a mouse model, scientists funded by the National Institute of Neurological Disorders and Stroke are testing a combined treatment approach that uses a harmless virus to increase protein production, along with blood stem cell transplantation and small-molecule-based drugs, to reduce neuroinflammation, cell death, and nerve cell degeneration seen in Krabbe disease.

Information from the National Library of Medicine’s MedlinePlusKrabbe Disease

Hematopoietic stem cell transplantation -- using stem cells from umbilical cord blood or bone marrow -- has been shown to benefit some individuals when given early in the course of the disease. Scientists plan to test hematopoietic stem cell transplantation plus gene therapy to see if it dramatically increases life expectancy in a mouse model of the disease. Also in a mouse model, scientists funded by the National Institute of Neurological Disorders and Stroke are testing a combined treatment approach that uses a harmless virus to increase protein production, along with blood stem cell transplantation and small-molecule-based drugs, to reduce neuroinflammation, cell death, and nerve cell degeneration seen in Krabbe disease.

Information from the National Library of Medicine’s MedlinePlusKrabbe Disease

Krabbe disease is a rare, inherited metabolic disorder in which harmful amounts of lipids (fatty materials such as oils and waxes) build up in various cells and tissues in the body and destroys brain cells. Krabbe disease, also known as globoid cell leukodystrophy, is characterized by the presence of globoid cells (cells that have more than one nucleus) that break down the nerve’s protective myelin coating. Krabbe disease is caused by a deficiency of galactocerebrosidase, an essential enzyme for myelin metabolism. The disease most often affects infants, with onset before age 6 months, but can occur in adolescence or adulthood. Symptoms include severe deterioration of mental and motor skills, muscle weakness, hypertonia (inability of a muscle to stretch), myoclonic seizures (sudden, shock-like contractions of the limbs), and spasticity (involuntary and awkward movement). Other symptoms may include irritability, unexplained fever, blindness, difficulty with swallowing, and deafness.

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Definition

Krabbe disease is a rare, inherited metabolic disorder in which harmful amounts of lipids (fatty materials such as oils and waxes) build up in various cells and tissues in the body and destroys brain cells. Krabbe disease, also known as globoid cell leukodystrophy, is characterized by the presence of globoid cells (cells that have more than one nucleus) that break down the nerve’s protective myelin coating. Krabbe disease is caused by a deficiency of galactocerebrosidase, an essential enzyme for myelin metabolism. The disease most often affects infants, with onset before age 6 months, but can occur in adolescence or adulthood. Symptoms include severe deterioration of mental and motor skills, muscle weakness, hypertonia (inability of a muscle to stretch), myoclonic seizures (sudden, shock-like contractions of the limbs), and spasticity (involuntary and awkward movement). Other symptoms may include irritability, unexplained fever, blindness, difficulty with swallowing, and deafness.

There is no cure for Krabbe disease. Results of a very small clinical trial of children with infantile Krabbe disease found that children who received umbilical cord blood stem cells from unrelated donors prior to symptom onset developed with little neurological impairment. Bone marrow transplantation may help some people. Generally, treatment for the disorder is symptomatic and supportive. Physical therapy may help maintain or increase muscle tone and circulation.

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Treatment

There is no cure for Krabbe disease. Results of a very small clinical trial of children with infantile Krabbe disease found that children who received umbilical cord blood stem cells from unrelated donors prior to symptom onset developed with little neurological impairment. Bone marrow transplantation may help some people. Generally, treatment for the disorder is symptomatic and supportive. Physical therapy may help maintain or increase muscle tone and circulation.

Krabbe disease is a rare, inherited metabolic disorder in which harmful amounts of lipids (fatty materials such as oils and waxes) build up in various cells and tissues in the body and destroys brain cells. Krabbe disease, also known as globoid cell leukodystrophy, is characterized by the presence of globoid cells (cells that have more than one nucleus) that break down the nerve’s protective myelin coating. Krabbe disease is caused by a deficiency of galactocerebrosidase, an essential enzyme for myelin metabolism. The disease most often affects infants, with onset before age 6 months, but can occur in adolescence or adulthood. Symptoms include severe deterioration of mental and motor skills, muscle weakness, hypertonia (inability of a muscle to stretch), myoclonic seizures (sudden, shock-like contractions of the limbs), and spasticity (involuntary and awkward movement). Other symptoms may include irritability, unexplained fever, blindness, difficulty with swallowing, and deafness.

Treatment

There is no cure for Krabbe disease. Results of a very small clinical trial of children with infantile Krabbe disease found that children who received umbilical cord blood stem cells from unrelated donors prior to symptom onset developed with little neurological impairment. Bone marrow transplantation may help some people. Generally, treatment for the disorder is symptomatic and supportive. Physical therapy may help maintain or increase muscle tone and circulation.

Prognosis

Krabbe disease in infants is generally fatal before age 2. Individuals with a later onset form of the disease generally have a milder course of the disease and live significantly longer.

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Prognosis

Krabbe disease in infants is generally fatal before age 2. Individuals with a later onset form of the disease generally have a milder course of the disease and live significantly longer.

Krabbe disease is a rare, inherited metabolic disorder in which harmful amounts of lipids (fatty materials such as oils and waxes) build up in various cells and tissues in the body and destroys brain cells. Krabbe disease, also known as globoid cell leukodystrophy, is characterized by the presence of globoid cells (cells that have more than one nucleus) that break down the nerve’s protective myelin coating. Krabbe disease is caused by a deficiency of galactocerebrosidase, an essential enzyme for myelin metabolism. The disease most often affects infants, with onset before age 6 months, but can occur in adolescence or adulthood. Symptoms include severe deterioration of mental and motor skills, muscle weakness, hypertonia (inability of a muscle to stretch), myoclonic seizures (sudden, shock-like contractions of the limbs), and spasticity (involuntary and awkward movement). Other symptoms may include irritability, unexplained fever, blindness, difficulty with swallowing, and deafness.

Treatment

There is no cure for Krabbe disease. Results of a very small clinical trial of children with infantile Krabbe disease found that children who received umbilical cord blood stem cells from unrelated donors prior to symptom onset developed with little neurological impairment. Bone marrow transplantation may help some people. Generally, treatment for the disorder is symptomatic and supportive. Physical therapy may help maintain or increase muscle tone and circulation.

Prognosis

Krabbe disease in infants is generally fatal before age 2. Individuals with a later onset form of the disease generally have a milder course of the disease and live significantly longer.

What research is being done?

Hematopoietic stem cell transplantation -- using stem cells from umbilical cord blood or bone marrow -- has been shown to benefit some individuals when given early in the course of the disease. Scientists plan to test hematopoietic stem cell transplantation plus gene therapy to see if it dramatically increases life expectancy in a mouse model of the disease. Also in a mouse model, scientists funded by the National Institute of Neurological Disorders and Stroke are testing a combined treatment approach that uses a harmless virus to increase protein production, along with blood stem cell transplantation and small-molecule-based drugs, to reduce neuroinflammation, cell death, and nerve cell degeneration seen in Krabbe disease.

Information from the National Library of Medicine’s MedlinePlusKrabbe Disease